Research About Neurofibromatosis

Although the past decade has yielded many new insights into the genetic and molecular abnormalities that cause neurofibromatosis, many questions remain about how its manifestations develop and how to manage them. Most disturbing to patients and families is the fact that there is currently no way to prevent these disorders or cure them. At the same time, physicians and families are hopeful that as more is learned about neurofibromatosis, effective treatments will be found. Scientific research is essential for achieving this goal.

People with neurofibromatosis and family members who are eager to support clinical research can do so by enrolling in clinical trials, which evaluate and compare the effectiveness of potential therapies. Clinical trials provide the critical link between basic laboratory research and improved treatments. Typically these trials are conducted in stages over several years. The preclinical phase refers to tests in the laboratory and in animal models. If a therapy looks promising, research advances to a phase one trial, the first to occur in people. Phase one trials involve a relatively small number of people who have not responded to other therapies for their distinct medical condition. The goal is to determine whether a new medication or treatment is safe. Phase two trials then determine whether the treatment is effective. Typically the new treatment is compared with an existing therapy or to a placebo, a harmless but ineffectual medication or other treatment that should have no therapeutic effect. Assuming the new treatment is safe and effective, it moves into the final phase of testing known as a phase three trial. This phase usually involves many people nationwide. The goal is to determine whether a new treatment is more effective than current therapies and what types of benefits and side effects it offers.

Conducting clinical research that moves a discovery from “bench to bedside” can take an estimated 12 to 20 years. Most promising agents discovered in laboratories do not make it onto drugstore shelves. This can be disappointing for both researchers and patients. In the case of NF1, for instance, early laboratory studies indicated that it might be possible to inhibit Ras, one of the molecules that contribute to neurofibroma growth. So far, clinical studies of a few Ras-inhibiting agents in people have not lived up to expectations. On the other hand, clinical trials have helped to determine which surgical techniques are most effective for managing tumors associated with neurofibromatosis.

Participation in a clinical trial is voluntary and can take place only after someone has provided informed consent. Before signing an informed consent form, a person must be fully informed about the purpose of the study, its procedures, risks, and potential benefits. The informed consent form should include details about the study, risks and benefits, whom to contact with questions, and how to withdraw from the study at any time. If any aspect of the study or the wording of an informed consent form is not clear and fully understood, ask questions. The researchers running the study understand that participants may not be medical professionals, and they should be prepared to explain everything in plain language.

In many clinical trials, participation is free of charge. The grant funding a research study generally covers the costs of medications, study-related medical visits, and laboratory tests. At other times, the institution sponsoring the study may cover such costs. It is wise to ask about cost of participation ahead of time, however. Health insurance plans rarely cover the costs of experimental therapies and are unlikely to pay for participation in a clinical trial.